ReviewFrontiers in molecular neuroscience2023
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Review in Frontiers in molecular neuroscience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Aberrant retinal structure and vasculature in mouse models of dominant retinopathies caused by CRX homeodomain mutations.Scientific reports · 2026Article
- Interlocked transcription factor feedback loops maintain and restore adult touch sensation.Cell reports · 2026Article
- Aberrant retinal structure and vasculature in mouse models of dominant retinopathies caused bybioRxiv : the preprint server for biology · 2026Article
- PreclinicalbioRxiv : the preprint server for biology · 2026Article
- Human CRX regulates photoreceptor cells development via bidirectional transcriptional control in retinal organoids.Stem cell reports · 2026Article
- Cell type-specific functions of the PBAF chromatin-remodeling complex in neuronal diversification.Nature communications · 2025Article
- Analysis ofInternational journal of molecular sciences · 2025Article
- Pathogenic variants inGenome research · 2024Article
- Perspectives of traditional herbal medicines in treating retinitis pigmentosa.Frontiers in medicine · 2024Article
- Pathogenic variants in Crx have distinct cis-regulatory effects on enhancers and silencers in photoreceptors.bioRxiv : the preprint server for biology · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Photoreceptor development of the vertebrate visual system is controlled by a complex transcription regulatory network. OTX2 is expressed in the mitotic retinal progenitor cells (RPCs) and controls photoreceptor genesis. CRX that is activated by OTX2 is expressed in photoreceptor precursors after cell cycle exit. NEUROD1 is also present in photoreceptor precursors that are ready to specify into rod and cone photoreceptor subtypes. NRL is required for the rod fate and regulates downstream rod-specific genes including the orphan nuclear receptor NR2E3 which further activates rod-specific genes and simultaneously represses cone-specific genes. Cone subtype specification is also regulated by the interplay of several transcription factors such as THRB and RXRG. Mutations in these key transcription factors are responsible for ocular defects at birth such as microphthalmia and inherited photoreceptor diseases such as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and allied dystrophies. In particular, many mutations are inherited in an autosomal dominant fashion, including the majority of missense mutations in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.